Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.
Journal
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
ISSN: 1530-0285
Titre abrégé: Mod Pathol
Pays: United States
ID NLM: 8806605
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
20
08
2020
accepted:
17
02
2021
revised:
17
02
2021
pubmed:
18
3
2021
medline:
27
1
2022
entrez:
17
3
2021
Statut:
ppublish
Résumé
Breast fibroepithelial lesions are biphasic tumors which comprise the common benign fibroadenomas (FAs) and the rarer phyllodes tumors (PTs). This study analyzed 262 (42%) conventional FAs, 45 (7%) cellular FAs, and 321 (51%) benign PTs contributed by the International Fibroepithelial Consortium, using a previously curated 16 gene panel. Benign PTs were found to possess a higher number of mutations, and higher rates of cancer driver gene alterations than both groups of FAs, in particular MED12, TERT promoter, RARA, FLNA, SETD2, RB1, and EGFR. Cases with MED12 mutations were also more likely to have TERT promoter, RARA, SETD2, and EGFR. There were no significant differences detected between conventional FAs and cellular FAs, except for PIK3CA and MAP3K1. TERT promoter alterations were most optimal in discriminating between FAs and benign PTs. Our study affirms the role of sequencing and key mutations that may assist in refining diagnoses of these lesions.
Identifiants
pubmed: 33727697
doi: 10.1038/s41379-021-00787-w
pii: S0893-3952(22)00583-X
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1320-1332Investigateurs
Norraha Abd Rahman
(NA)
S M Khodeza Nahar Begum
(SMKN)
Phaik Leng Cheah
(PL)
Chih Jung Chen
(CJ)
Emmanuel Dela Fuente
(ED)
Aaron Han
(A)
Oi Harada
(O)
Naoki Kanomata
(N)
Cheok Soon Lee
(CS)
Jonathan Yu Han Lee
(JYH)
Mohammed Kamal
(M)
Rieko Nishimura
(R)
Yasuyo Ohi
(Y)
Elinor J Sawyer
(EJ)
Kean Hooi Teoh
(KH)
Alex Koon Ho Tsang
(AKH)
Julia Yuen-Shan Tsang
(JY)
Gary M K Tse
(GMK)
Rin Yamaguchi
(R)
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